A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602538



Internal ID6642795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144100754..144117717hg38UCSC Ensembl
chr4:145021907..145038870hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3816964
hg1916964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11638249, essv11638253, essv11638241, essv11638255, essv11638247, essv11638243, essv11638254, essv11638244, essv11638252, essv11638237, essv11638239, essv11638246, essv11638248, essv11638245, essv11638251, essv11638250, essv11638242, essv11638240, essv11638238
SamplesHG01441, HG02250, NA18605, HG03729, HG03634, HG00651, NA18625, HG02554, HG00692, HG02356, NA18593, HG03919, NA18552, HG02491, HG00717, HG01804, HG02798, HG03837, HG00622
Known GenesGYPA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602538
Frequency
Sample Size2504
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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